3-46372790-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001394783.1(CCR5):c.-11-102G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0186 in 784,414 control chromosomes in the GnomAD database, including 1,413 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.063 ( 998 hom., cov: 32)
Exomes 𝑓: 0.0079 ( 415 hom. )
Consequence
CCR5
NM_001394783.1 intron
NM_001394783.1 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.768
Genes affected
CCR5 (HGNC:1606): (C-C motif chemokine receptor 5) This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. An allelic polymorphism in this gene results in both functional and non-functional alleles; the reference genome represents the functional allele. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2015]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.85).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.212 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCR5 | NM_001394783.1 | c.-11-102G>T | intron_variant | ENST00000292303.5 | |||
CCR5AS | NR_125406.1 | n.392-1373C>A | intron_variant, non_coding_transcript_variant | ||||
CCR5 | NM_000579.4 | c.-11-102G>T | intron_variant | ||||
CCR5 | NM_001100168.2 | c.-11-102G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCR5 | ENST00000292303.5 | c.-11-102G>T | intron_variant | 1 | NM_001394783.1 | P1 | |||
CCR5AS | ENST00000701879.1 | n.174-1373C>A | intron_variant, non_coding_transcript_variant | ||||||
CCR5 | ENST00000445772.1 | c.-113G>T | 5_prime_UTR_variant | 1/1 | P1 | ||||
CCR5AS | ENST00000451485.2 | n.392-1373C>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0626 AC: 9519AN: 152016Hom.: 983 Cov.: 32
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GnomAD4 exome AF: 0.00790 AC: 4995AN: 632280Hom.: 415 Cov.: 8 AF XY: 0.00679 AC XY: 2224AN XY: 327454
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GnomAD4 genome ? AF: 0.0629 AC: 9564AN: 152134Hom.: 998 Cov.: 32 AF XY: 0.0607 AC XY: 4513AN XY: 74384
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at